Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
3 |
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Growth retardation-mild developmental delay-chronic hepatitis syndrome is a rare, genetic, parenchymatous liver disease characterized by pre- and postnatal growth retardation, mild global developmental delay, chronic hepatitis with hepatosplenomegaly, Hashimoto thyroiditis, thrombocytopenia, anemia, and B-precursor acute lymphoblastic leukemia. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Stage 3 hepatic fibrosis (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Infection by Opisthorchis viverrini |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Opisthorchiasis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Hepatic cryptococcosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Coccidiomycosis liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chronic lymphocytic cholangitis-cholangiohepatitis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
A rare immune disease characterized by severely reduced mitochondrial DNA content due to DGUOK deficiency typically manifesting with early-onset liver dysfunction, psychomotor delay, hypotonia, rotary nystagmus that develops into opsoclonus, lactic acidosis and hypoglycemia. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Viral arthritis co-occurrent with hepatitis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and cirrhosis. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Retinohepatoendocrinologic syndrome (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chorea co-occurrent and due to Wilson disease (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Secondary syphilis of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Mesothelial carcinoma of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Acute yellow atrophy of liver during pregnancy |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
3 |
Hepatitis in yellow fever |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Palpable edge of liver below right costal margin (finding) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Palpable edge of liver at midline of abdomen (finding) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Cholestasis-edema syndrome, Norwegian type |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Injury of liver due to birth trauma (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chronic hepatitis C co-occurrent with human immunodeficiency virus infection (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chronic hepatitis B co-occurrent with hepatitis C and hepatitis D |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chronic hepatitis B co-occurrent with hepatitis C and hepatitis D |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Chronic hepatitis B co-occurrent with hepatitis C and hepatitis D |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
4 |
Measurement of controlled attenuation parameter (procedure) |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Rupture of liver due to Echinococcus granulosus infection (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Graft versus host disease of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Hepatic granulomas in sarcoidosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Failed attempted termination of pregnancy complicated by acute necrosis of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Acute and subacute liver necrosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
4 |
Infection of liver and spleen caused by Schistosoma mansoni |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Glycogen storage disease type IXB (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Chronic necrosis of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Hepatosplenic schistosomiasis caused by Schistosoma haematobium (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Epithelioid hemangioendothelioma of liver (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Liver disease following Fontan operation (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Lymphogenic liver abscess (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Bacterial liver abscess |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Infection of liver caused by parasite |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Cirrhosis of liver due to and following cardiac procedure (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Cirrhosis of liver due to and following cardiac procedure (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Central hemorrhagic necrosis of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Metastatic squamous cell carcinoma to liver (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Computed tomography of liver and portal vein with contrast (procedure) |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |
polykystose hépatique autosomique dominante |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
1 |
Liver cirrhosis due to classical cystic fibrosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Liver cirrhosis due to classical cystic fibrosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Cardiac cirrhosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
5 |
Cardiac portal cirrhosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
4 |
Hepatic fibrosis with hepatic sclerosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
3 |
Alcoholic fibrosis and sclerosis of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
3 |
Fatty portal cirrhosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
4 |
Fibrosis of liver caused by alcohol (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Drug-induced disorder of liver (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Steatosis of liver caused by retroviral protease inhibitor |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Magnetic resonance spectroscopy of liver (procedure) |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Magnetic resonance spectroscopy of liver (procedure) |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
2 |
néoplasme carcinoïde bénin du foie |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
1 |
Metastatic small cell carcinoma to liver (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Live donor partial hepatectomy |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Hepatic failure following surgical procedure (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed. |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
2 |
Histologic type of primary malignant neoplasm of liver (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
5 |
Lymphoma of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Acquired porphyria cutanea tarda |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Cholestanol storage disease |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
3 |
Synthetic defect of bile acids |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Westphal-Strumpell syndrome |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Hepatocellular adenoma (HA) is a rare benign tumor of the liver. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
CT guided percutaneous needle aspiration of liver |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
2 |
CT guided percutaneous drainage of liver |
Procedure site - Indirect (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |
CT guided percutaneous drainage of liver |
Procedure site - Indirect (attribute) |
False |
Liver structure |
Inferred relationship |
Some |
2 |
Absence of liver (finding) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
CT guided percutaneous needle aspiration of liver |
Procedure site - Indirect (attribute) |
False |
Liver structure |
Inferred relationship |
Some |
1 |
Histologic grade of primary malignant neoplasm of liver (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
5 |
Presence of direct invasion by primary malignant neoplasm of liver to nerve |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
7 |
Anatomic location directly invaded by primary malignant neoplasm of liver |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
6 |
Laparoscopic excision of cyst of liver |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |
The number of distinct, individual primary malignant neoplasms in a liver specimen represented as either focal (single) or multifocal (multiple), and not as a discrete number. |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
6 |
Surgical margin involved by primary malignant neoplasm of liver in excised liver specimen (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
7 |
Presence of primary malignant neoplasm of liver at parenchymal surgical margin in liver tissue specimen |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
7 |
Presence of primary malignant neoplasm of liver at surgical margin in liver tissue specimen (observable entity) |
This attribute specifies the location of the entity specified by the attribute "Inheres in". |
False |
Liver structure |
Inferred relationship |
Some |
7 |
Fungal infection of liver |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Infection of liver caused by Schistosoma japonicum (disorder) |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Submassive hepatic necrosis |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Opisthorchis felineus infection |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Primary fibrolamellar hepatocellular carcinoma |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Primary fibrolamellar hepatocellular carcinoma |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
2 |
Primary liver cell carcinoma |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Primary liver cell carcinoma |
Finding site |
False |
Liver structure |
Inferred relationship |
Some |
2 |
Combined hepatocellular and cholangiocarcinoma is a distinct subtype of liver malignancies whereby the tumor exhibits both hepatocytic and biliary differentiation. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Liver disease due to peroxisomal disease |
Finding site |
True |
Liver structure |
Inferred relationship |
Some |
1 |
Incision and exploration of liver |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
2 |
Percutaneous needle biopsy of liver using computed tomography guidance (procedure) |
Procedure site - Direct (attribute) |
True |
Liver structure |
Inferred relationship |
Some |
1 |